Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000262181 | SCV000337611 | uncertain significance | not provided | 2015-11-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000648008 | SCV000769818 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004619242 | SCV005112234 | uncertain significance | Inborn genetic diseases | 2024-06-05 | criteria provided, single submitter | clinical testing | The c.5757T>G (p.D1919E) alteration is located in exon 51 (coding exon 51) of the DYSF gene. This alteration results from a T to G substitution at nucleotide position 5757, causing the aspartic acid (D) at amino acid position 1919 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001276869 | SCV001463484 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-08 | no assertion criteria provided | clinical testing |